Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs138299564

AHDC1

rs138299564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHDC1. Location: chromosome 1, position 27,876,189. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

AHDC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:27876189
Cytoband
1p36.11
HGVS
NM_001371928.1(AHDC1):c.2438G>A (p.Arg813His)
Allele change
Missense_R813H

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.